ClinVar Miner

Submissions for variant NM_000140.4(FECH):c.163G>T (p.Gly55Cys) (rs3848519)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000000578 SCV000409672 likely benign Protoporphyria, erythropoietic, 1 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455178 SCV000539170 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 4.7% in South Asian with 37 homozygotes
Mendelics RCV000000578 SCV001140908 benign Protoporphyria, erythropoietic, 1 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000000578 SCV000020727 pathogenic Protoporphyria, erythropoietic, 1 1991-12-16 no assertion criteria provided literature only

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